摘要
目的探讨β-酮硫解酶缺乏致非糖尿病性酮症酸中毒(NDKA)的救治方法。方法报告1例β-酮硫解酶缺乏症患儿的3次NDKA发作,收集其临床症状、辅助检查结果和酸中毒抢救方案。文献复习儿童NDKA的救治策略。结果患儿男,5月23 d,因"腹泻3 d,抽搐3 h"于2013年5月31日入重庆医科大学附属儿童医院,血串联质谱3-羟基丁酰肉碱增高(58.71μmol·L^(^(-1)))、尿气相质谱示3-羟基丁酸显著增高(2 591.6μmol·L^(-1)),3-羟基丙酸(20.3μmol·L^(-1))和乙酰甘氨酸(34.9μmol·L^(-1))增高;基因测序,T2基因突变(c.456C>T),确诊β-酮硫解酶缺乏症。患儿于5、8和26月龄出现3次NDKA发作,均伴消化道症状、深大呼吸、轻度脱水及意识改变;3次入院时p H分别为7.15、7.09和7.03,HCO3-(mmol·L^(^(-1)))分别为3.8、<3和4.8,尿酮体均3+,血糖(mmol·L^(-1))为4.3、5.1和4.7;首次NDKA发作时行连续性血液透析滤过(CHDF)酸中毒纠正不理想,入院81 h改胰岛素,89 h时酸中毒完全纠正;3次NDKA发作治疗中,5%Na HCO3剂量(m L·kg^(-1))分别为24、2.5和3、胰岛素剂量(U·kg^(-1)·h^(-1))分别为0.079、0.078和0.081,入院至酸中毒纠正时间(h)为89、60和21。结论β-酮硫解酶缺乏症NDKA发作治疗,CHDF疗效欠佳,Na HCO3的使用应谨慎,胰岛素疗效确切。
Objective： To study the rescue methods of non-diabetic ketoacidosis caused by β-ketothiolase deficiency. Methods： One case of β-ketothiolase deficiency who suffered three episodes of non-diabetic ketoacidosis was reported. Clinical symptoms, auxiliary examination results and rescue methods of acidosis were retrospectively reviewed. The treatment strategies of non-diabetic ketoacidosis rescuing were summarized and literatures were reviewd. Results： A 5 23/30 months old boy was admitted to the Children＇s Hospital of Chongqing Medical University on May 31,2013,because of ＂diarrhea 3 days, spasm 3 hours＂.The blood series mass spectrometry indicated that the 3-hydroxybutyl carnitine was increased （58.71 μmol·L-1）; the urine gas phase mass spectra showed a significant increase （2 591.6 μmol·L-1）, with the 3-hydroxypropyl acid （20.3 μmol·L-1）, and acetyl glycine increased （34.9 μmol·L-1） and the T2 gene mutation was presented as T2 gene mutation, which confirmed the deficiency of beta-ketone thiolysis in the first hospitalization. He suffered three episodes of non-diabetic ketoacidosis respectively at the age of 5, 8 and 26 months .All three episodes were accompanied by gastrointestinal symptoms, deep breathing, mild dehydration and altered consciousness. The pH, HCO3-, urine acetone bodies and blood sugar were （7.15, 7.09, 7.03）, （3.8, 〈 3, 4.8） mmol·L-1, （3＋, 3＋, 3＋）, （4.3, 5.1, 4.7） mmol·L-1 respectively.The boy was treated with continuous hemodiafiltration in the first hospitalization, which lasted 17 hours, with ketoacidosis corrected partly. The ketoacidosis was corrected completely until 8 hours after using insulin, which was used 81 hours after admission.The time of correction of acidosis, the dosage of 5% sodium bicarbonateand and insulin dosage were （89, 60, 21） h, （24, 2.5, 3） mL·kg-1, （0.079, 0.078, 0.081） U·kg-1·h-1 respectively. Conclusion： For NDKA treatment, insulin is effective, CRRT is not effective, and the use of sodium bicarbonate should be prudent.
出处
《中国循证儿科杂志》
CSCD
北大核心
2017年第4期304-307,共4页
Chinese Journal of Evidence Based Pediatrics
